DisGeNET - a database of gene-disease associations

List of associated variants

Induced vaginal delivery, C4072908

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		64
rs1555743003	ASXL3	0.701	0.520	18	33740444	splice donor variant	G/A	snv			58
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv			57
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs61750420	PEX1	0.689	0.480	7	92501562	missense variant	C/T	snv	3.2E-04	3.5E-04	52
rs1232880706	FBN1	0.689	0.440	15	48526247	stop gained	C/A;T	snv			36
rs1557781252	GATAD2B	0.742	0.320	1	153816414	stop gained	G/A	snv			33
rs1555575860	COG4	0.732	0.240	16	70496367	missense variant	C/G;T	snv			31
rs374052333	NPHP3-ACAD11 ; UBA5	0.763	0.320	3	132671032	stop gained	C/G;T	snv	4.0E-06		27
rs1566785990	IRF2BPL ; LOC107984638	0.851	0.120	14	77026534	missense variant	A/G	snv			12